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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9527

FusionGeneSummary for DDOST_ITPKC

check button Fusion gene summary
Fusion gene informationFusion gene name: DDOST_ITPKC
Fusion gene ID: 9527
HgeneTgene
Gene symbol

DDOST

ITPKC

Gene ID

1650

80271

Gene namedolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitinositol-trisphosphate 3-kinase C
SynonymsAGER1|CDG1R|GATD6|OKSWcl45|OST|OST48|WBP1IP3-3KC|IP3KC
Cytomap

1p36.12

19q13.2

Type of geneprotein-codingprotein-coding
Descriptiondolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunitadvanced glycation end-product receptor 1advanced glycation endproduct receptor 1dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)dolichyinositol-trisphosphate 3-kinase CIP3 3-kinase CIP3K CInsP 3 kinase Cinositol 1,4,5-trisphosphate 3-kinase CinsP 3-kinase C
Modification date2018052320180519
UniProtAcc

P39656

Q96DU7

Ensembl transtripts involved in fusion geneENST00000602624, ENST00000375048, 
ENST00000415136, ENST00000477229, 
ENST00000263370, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DDOST [Title/Abstract] AND ITPKC [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDDOST

GO:0006487

protein N-linked glycosylation

9642163

HgeneDDOST

GO:0034097

response to cytokine

9642163

HgeneDDOST

GO:0042110

T cell activation

9642163


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF572086DDOSTchr1

20978985

-ITPKCchr19

41227551

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000602624ENST00000263370DDOSTchr1

20978985

-ITPKCchr19

41227551

+
intron-intronENST00000375048ENST00000263370DDOSTchr1

20978985

-ITPKCchr19

41227551

+
intron-intronENST00000415136ENST00000263370DDOSTchr1

20978985

-ITPKCchr19

41227551

+
intron-intronENST00000477229ENST00000263370DDOSTchr1

20978985

-ITPKCchr19

41227551

+

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FusionProtFeatures for DDOST_ITPKC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDOST

P39656

ITPKC

Q96DU7

Essential subunit of the N-oligosaccharyl transferase(OST) complex which catalyzes the transfer of a high mannoseoligosaccharide from a lipid-linked oligosaccharide donor to anasparagine residue within an Asn-X-Ser/Thr consensus motif innascent polypeptide chains. Required for the assembly of bothSST3A- and SS3B-containing OST complexes. Required for efficientN-glycosylation. {ECO:0000250|UniProtKB:Q05052,ECO:0000269|PubMed:22467853, ECO:0000305}. Can phosphorylate inositol 2,4,5-triphosphate toinositol 2,4,5,6-tetraphosphate. {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for DDOST_ITPKC


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DDOST_ITPKC


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for DDOST_ITPKC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DDOST_ITPKC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDOSTC3281084CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir1ORPHANET;UNIPROT
TgeneITPKCC0010051Coronary Aneurysm1CTD_human
TgeneITPKCC0026691Mucocutaneous Lymph Node Syndrome1CTD_human